Incidence	1 in 2500 births in caucasians; carrier rate 1 in 25
Age	Presents early in childhood
Sex
Geography	- commonest in Caucasians
Aetiology	- autosomal recessive disease - defective CFTR gene on chromosome 7 - increased viscosity of secretions -> chronic infection of smaller airways with e.g. S. aureus and H. influenzae, Pseudomonas spp. -> bronchiectasis and abscess formation - malabsorption due to insufficiency of pancreatic exocrine enzymes
Presentation	Malabsorption -> steatorrhoea and failure to thrive -> large appetite, pass pale, large, offensive stools - "falls off" centile on growth chart Recurrent/persistent chest infections - persistant, loose cough productive of purulent sputum - hyperinflation of the chest - coarse crepitations - expiratory ronchi - finger clubbing in established disease
Investigations	Sweat test - sweating stimulated by iontophoresing pilocarpine onto skin; sweat is collected using a capillary tube - abnormally high levels of Na and Cl in CF - 80-125 mmol/l - two tests should be be performed by experienced staff Immunoreactive trypsin - raised in CF patients; can be used as screening test in babies Genetic testing for CFTR gene; allows carrier detection in family as well
Macro
Micro
Staging
Serum markers
Management	- multidisciplinary approach - paediatricians, physios, dieticians, nursing staff, primary care team, teachers, child and parents - review periodically in specialist centre - educate parents - physiotherapy; incurable disease - genetic counselling - 1 in 4 risk of recurrence Respiratory management - physiotherapy 2-4 times a day depending on severity; chest percussions and postural drainage; deep breathing exercises - continuous oral antibiotics, vigorous iv therapy for exacerbations - up to 1/3 have reversible airways obstruction - may benefit from bronchodilators Nutritional management - regular assessment of dietary status - treat pancreatic insufficiency with oral enteric-coated pancreatic supplements with every meal/snack - high-calorie diet to counteract malabsorption and overall higher energy requirement - vitamin supplements - heart-lung transplantation has been used in some patients in terminal respiratory failure
Prognosis
Complications	- late complications include pneumothorax, haemoptysis, diabetes, liver disease - distal intestinal obstruction syndrome - viscid mucofaeculent material obstructs bowel - males are infertile - women may have successful pregnancies - however, warn that breast milk has high sodium concentration

Paediatrics

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